A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961524



Internal ID18250084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:165090544..165091909hg38UCSC Ensembl
Innerchr2:165947054..165948419hg19UCSC Ensembl
Innerchr2:165655300..165656665hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg381366
hg191366
hg181366
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2208829, nssv2208835, nssv2208832, nssv2208828, nssv2208833, nssv2208830, nssv2208831, nssv2208836, nssv2208837, nssv2208834
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesSCN3A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961524
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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